Variants studied for Diamond-Blackfan anemia 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
20	2	22	14	9	65

Gene and significance breakdown #

Total genes and gene combinations: 5

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
RPS19	16	2	21	12	9	58
HEATR3	3	0	0	0	0	3
DIPK1A, RPL5	1	0	0	1	0	2
MIR6797, RPS19	0	0	1	0	0	1
RPL5	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 16

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	11	5	8	24
Fulgent Genetics, Fulgent Genetics	0	0	4	9	1	14
OMIM	9	0	0	0	0	9
Revvity Omics, Revvity	3	0	3	0	0	6
Baylor Genetics	0	0	3	0	0	3
3billion	1	1	1	0	0	3
Mendelics	0	0	0	2	0	2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	2	0	0	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	0	1	2
Johns Hopkins Genomics, Johns Hopkins University	1	0	1	0	0	2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	1	0	1	0	0	2
Hematology Diagnostic Laboratory, Assistance Publique-Hôpitaux de Paris - Robert Debre Hospital	2	0	0	0	0	2
Genetic Services Laboratory, University of Chicago	0	1	0	0	0	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	1	0	0	0	0	1
Leuven Cancer Institute, KU Leuven and UZ Leuven	1	0	0	0	0	1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	1	0	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.